Familial Hyperinsulinemic Hypoglycemia 2
Disease ID: disease_node_16856
Connections displayed (default: 10).
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| Dbxref | MIM:601820 |
|---|---|
| Subclassof | DOID_0050736, DOID_0050737, DOID_13317 |
| Data Source | DOID |
| Synonyms | Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, HHF2, hyperinsulinemic hypoglycemia due to focal adenomatous hyperplasia |
| Doid Label | familial hyperinsulinemic hypoglycemia 2 |
| Doid Description | A hyperinsulinemic hypoglycemia characterized by autosomal recessive inheritance of severe hyperinsulinemic hypoglycemia that is resistant to diazoxide treatment that has_material_basis_in mutation in the KCNJ11 gene on chromosome 11p15.1. |
| Has Phenotype | HP_0011015 |
| Has Material Basis In | GENO_0000147, GENO_0000148 |
| Disease Node Id | disease_node_16856 |
| Doid Id | DOID_0070218 |
| Label | Familial Hyperinsulinemic Hypoglycemia 2 |
- Outgoing r'ship
SUBCLASS_OFto/from Nesidioblastosis(ID:disease_node_11328) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)